Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome / D. HETTIARACHCHI in Journal of Autism and Developmental Disorders, 50-1 (January 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.118-126 Titre : Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : D. HETTIARACHCHI, Auteur ; N. F. NETHTHIKUMARA, Auteur ; B. A. P. S. PATHIRANA, Auteur ; V. H. W. DISSANAYAKE, Auteur Article en page(s) : p.118-126 Langues : Anglais (eng) Mots-clés : Methyl-CpG binding protein 2  Mutation profile  Neurodevelopmental disorder  Rtt  Rett syndrome Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants: a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations. En ligne : http://dx.doi.org/10.1007/s10803-019-04230-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome [Texte imprimé et/ou numérique] / D. HETTIARACHCHI, Auteur ; N. F. NETHTHIKUMARA, Auteur ; B. A. P. S. PATHIRANA, Auteur ; V. H. W. DISSANAYAKE, Auteur . - p.118-126. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.118-126 Mots-clés : Methyl-CpG binding protein 2  Mutation profile  Neurodevelopmental disorder  Rtt  Rett syndrome Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants: a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations. En ligne : http://dx.doi.org/10.1007/s10803-019-04230-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

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